ORAI1

ORAI calcium release-activated calcium modulator 1
OMIM: 610277, Gene2Phenotype

10 panels

Panel Reviews Mode of inheritance Details
10 panels

Green ORAI1 in COVID-19 research


Level 2: Viral research
Version 0.374

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • IUIS Classification February 2018
  • SCID v1.6
  • London North GLH
  • GOSH PID v.8.0
  • NHS GMS
  • GRID V2.0
  • Victorian Clinical Genetics Services
  • North West GLH
  • ESID Registry 20171117
  • Expert Review Green
  • NHS GMS
  • North West GLH
  • London North GLH
  • Expert Review Green
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • ESID Registry 20171117
  • GRID V2.0
  • GOSH PID v.8.0
  • SCID v1.6
Phenotypes
  • Combined immunodeficiency
  • immunodeficiency, ectodermal dysplasia and myopathy
  • Immunodeficiency 9 612782
  • Autoimmunity, EDA, non-progressive myopathy
  • T-B+ SCID
  • Combined immunodeficiencies with associated or syndromic features

Green ORAI1 in Neuromuscular disorders


Version 5.47
Signed off v.5.43 on 4 Mar 2020

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Myopathy, tubular aggregate, 2 615883

Amber ORAI1 in Inherited bleeding disorders

Level 3: Haemostasis disorders
Level 2: Haematological and immunological disorders
Version 1.156

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • BRIDGE Study Tier 1 Gene
Phenotypes
  • Stormorken syndrome

Green ORAI1 in Primary immunodeficiency


Version 2.175
Signed off v.2.1 on 24 Feb 2020

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • North West GLH
  • London North GLH
  • Expert Review Green
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • ESID Registry 20171117
  • GRID V2.0
  • GOSH PID v.8.0
  • SCID v1.6
Phenotypes
  • Immunodeficiency 9 612782
  • T-B+ SCID
  • immunodeficiency, ectodermal dysplasia and myopathy
  • Combined immunodeficiency
  • Autoimmunity, EDA, non-progressive myopathy
  • Combined immunodeficiencies with associated or syndromic features

Green ORAI1 in Arthrogryposis

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.11
Signed off v.3.2 on 13 Feb 2020

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • UKGTN
  • Expert
Phenotypes
  • Myopathy, tubular aggregate, 1 160565

Green ORAI1 in Congenital myopathy

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 2.5
Signed off v.2.2 on 2 Mar 2020

Component of the following Super Panels:

  • Hypotonic infant
  • Neuromuscular disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • NHS GMS
    • London South GLH
    • Expert Review Green
    • Expert
    • UKGTN
    Phenotypes
    • Myopathy, tubular aggregate, 2 615883
    Tags
    • missense

    Green ORAI1 in Limb girdle muscular dystrophy

    Level 3: Neuromuscular disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.6
    Signed off v.2.4 on 2 Mar 2020

    Component of the following Super Panels:

  • Hypotonic infant
  • Neuromuscular disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Yorkshire and North East GLH
    • NHS GMS
    • Expert Review
    Phenotypes
    • Myopathy, tubular aggregate, 2, 615883

    Green ORAI1 in Amelogenesis imperfecta

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 2.5
    Signed off v.2.2 on 13 Feb 2020

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • UKGTN
    Phenotypes
    • Immunodeficiency 9, 612782

    Green ORAI1 in Severe Paediatric Disorders


    Version 1.6

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Immunodeficiency 9, 612782
    • Myopathy, tubular aggregate, 2, 615883

    Green ORAI1 in Immunological disorders_SuperPanel_PanelAppAustralia


    Level 2: Immunological disorders
    Version 0.3

    review Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Melbourne Genomics Health Alliance Immunology Flagship